1/169. An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets.Deficiency of 3beta-hydroxy-delta5-C27-steroid dehydrogenase (3beta-HSDH), the enzyme that catalyses the second reaction in the principal pathway for the synthesis of bile acids, has been reported to present with prolonged neonatal jaundice with the biopsy features of neonatal hepatitis. It has also been shown to present between the ages of 4 and 46 months with jaundice, hepatosplenomegaly, and steatorrhoea (a clinical picture resembling progressive familial intrahepatic cholestasis). This paper reports two children with 3beta-HSDH deficiency who developed rickets during infancy and did not develop clinically evident liver disease until the age of 3 years. bile acid replacement resulted in considerable clinical and biochemical improvement. The importance of thorough investigation of fat soluble vitamin deficiencies in infancy is emphasised.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/169. Sclerosing hyaline necrosis of the liver in bloom syndrome.bloom syndrome is a rare autosomal recessive disorder characterized by normally proportioned but strikingly small body size, a characteristic facies and photosensitive facial skin lesion, immunodeficiency, and a marked predisposition to development of a variety of cancers. We describe here, we believe for the first time, pronounced sclerosing hyaline necrosis with mallory bodies in the liver of a patient with bloom syndrome. mallory bodies are cytoplasmic eosinophilic inclusions, which are more common in visibly damaged, swollen hepatocytes in various liver diseases but are never found in normal liver. The possible pathogenesis of this finding in bloom syndrome is discussed.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
3/169. Visceral manifestation of cat scratch disease in children. A consequence of altered immunological state?A 12-year-old girl with a 2-month history of fever and abdominal pain was admitted to our hospital. Ultrasound and CT scans of the abdomen showed multiple hypoechoic lesions of liver and spleen. Screening for zoonosis revealed high positive titers to bartonella henselae. T-cell deficiency was demonstrated and remained almost unchanged during a follow-up of 11 months. A review of the literature shows that disseminated visceral affection is a rare presentation of cat scratch disease (CSD) in childhood and adolescence. Further immunological investigations are needed in more patients with CSD to confirm whether an altered immunological state may be responsible for the atypical visceral manifestation of CSD.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
4/169. alpha1-Antitrypsin deficiency and liver disease in children.This report describes the clinical, biochemical, and hepatic morphologic findings in ten children with severe serum alpha1-antitrypsin deficiency. Genetic protease inhibitor (Pi) phenotyping, using acid-starch gel and crossed antigen-antibody electrophoresis, demonstrated Pi phenotype ZZ in all our cases. In eight patients, manifestations of liver disease appeared during the first year of life. The case reports show that alpha1-antitrypsin deficiency should be suspected in any child with neonatal hepatitis, unexplained hepatomegaly or splenomegaly, or cirrhosis. In our report, one infant is normal at age 6 months, and one infant had progressive hepatic damage that culminated in liver failure and death at age 6 months. The variable clinical course and prognosis for infants with severe alpha1-antitrypsin deficiency is well illustrated by these two infants.- - - - - - - - - - ranking = 1.4keywords = deficiency (Clic here for more details about this article) |
5/169. Alpha-1-antitrypsin deficiency and liver in adults.Thirteen adult patients (aged 16 to 73 years) form 12 families are described with liver disease and alpha- 1- antitrypsin deficiency. Long-term observation of several of these patients suggests that the liver disease may be only slowly progressive, but review of possible factors aggravating this has failed to reveal any obvious clues. Progression to death from hepatic failure was the commonest outcome, but one patient developed a malignant hepatoma and two others died because of intraperitoneal haemorrhage due to ruptured cirrhotic nodules--a complication not hitherto described in association with this condtion. diagnosis of alpha-1-antitrypsin deficiency was based on serological, histological, immunopathological and genetic studies. The most useful screening test in liver disease was found to be the demonstration of PAS positive globules in liver biopsy material which is diagn by immunofluoresence or immunoperoxidase, the latter being a superior technique. serum estimation of alpha-1 -antitrypsin deficiency was performed by immunoelectropharetic and immunodiffusion techniques, the former being preferred because it gave more consistent results. Both methods, however, were of limited value since wide variations in the serum values are commonly found in normal and abnormal states. Genotyping was carried out using starch gel electrophoresis and although of value in family studies, its value as a diagnositc aid is limited because of technical difficulties and also because alpha-1-antitrypsin accumulation in the liver may be found in both homozygous and heterozygous states. It is suggested that adult liver disease associated with abnormalities in alpha-1-antitrypsin may be more common than has hitherto been reported. This condition should be systematically sought in all cases of liver disease of uncertain aetiology.- - - - - - - - - - ranking = 1.4keywords = deficiency (Clic here for more details about this article) |
6/169. alpha 1-antitrypsin deficiency and infantile liver disease.Infantile liver disease with deficiency of serum alpha1-antitrypsin is illustrated by a description of the clinical, biochemical, and pathological findings in two affected families. The simplicity of the diagnostic tests is emphasized. review of 61 biopsies of liver from children and adolescents provided a further 3 cases. It is prudent to exclude this metabolic defect in children with a history of "neonatal hepatitis".- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
7/169. Hyperlactatemia and hepatic abnormalities in 10 human immunodeficiency virus-infected patients receiving nucleoside analogue combination regimens.During a 6-and-a-half month period, we identified 10 human immunodeficiency virus (hiv)-infected men who were receiving antiretroviral regimens, including nucleoside analogues, and who developed unexplained reproducible hyperlactatemia in association with either abdominal symptoms or an unaccounted-for elevated alanine aminotransferase level, or both. After careful consideration of the possible etiologies, antiretrovirals were discontinued; lactate levels normalized in all patients. The estimated incidence of this phenomenon in our clinic was 20.9 cases per 1000 person-years of nucleoside analogue treatment. These observations extend the spectrum of the nucleoside analogue-induced lactic acidosis/hepatic steatosis syndrome by the identification of a subtle and perhaps earlier form, which has characteristic symptoms and laboratory abnormalities, and a favorable prognosis on discontinuation of antiretroviral therapy.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
8/169. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with fanconi syndrome and low phosphorylase kinase activity.Fanconi-Bickel syndrome is characterized by hepato-renal glycogenosis with severe renal tubular dysfunction and rickets. It has recently been found to be associated with GLUT2 mutations in three families. In another family, low activities of liver phosphorylase kinase (Phk) have been observed, suggesting that Fanconi-Bickel syndrome might be genetically heterogeneous. We have analyzed this family for mutations in the GLUT2 gene and in the three Phk subunit genes that can cause liver glycogenosis (PHKA2, PHKB, and PHKG2). The coding sequences of all three Phk genes are normal but we have identified a homozygous missense mutation (Pro417Leu) in GLUT2. The affected proline residue is completely conserved in all mammalian glucose permease isoforms and even in bacterial sugar transporters and is believed to be critical for the passage of glucose through the permease. Seven affected individuals from different branches of the same large consanguineous sibship all are homozygous for this mutation. These findings indicate that there is no specific subtype of genetic Phk deficiency giving rise to hepato-renal glycogenosis. Rather, they provide further evidence that Fanconi-Bickel syndrome is caused by GLUT2 mutations. The low Phk activity is probably a secondary phenomenon that contributes to the deposition of glycogen in response to the intracellular glucose retention caused by GLUT2 deficiency.- - - - - - - - - - ranking = 0.4keywords = deficiency (Clic here for more details about this article) |
9/169. heme oxygenase-1 deficiency: the first autopsy case.This article describes the first autopsy case of heme oxygenase (HO)-1 deficiency. A 6-year-old boy who presented with growth retardation; anemia; leukocytosis; thrombocytosis; coagulation abnormality; elevated levels of haptoglobin, ferritin, and heme in serum; a low serum bilirubin concentration; and hyperlipidemia was diagnosed as HO-1 deficient by gene analysis several months before death. autopsy showed amyloid deposits in the liver and adrenal glands and mesangioproliferative glomerular changes in kidneys, in addition to an irregular distribution of foamy macrophages with iron pigments. Fatty streaks and fibrous plaques were noted in the aorta. Compared with HO-1--targeted mice, the present case seems to more severely involve endothelial cells and the reticuloendothelial system, resulting in intravascular hemolysis, disseminated intravascular coagulation, and amyloidosis with a short survival. This contrasts to the predominant iron metabolic disorders of HO-1--targeted mice with a long survival.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
10/169. Hepatic hydrothorax associated with vitamin a toxicity.We report the first case of an adult presenting with respiratory symptoms caused by hepatic hydrothorax secondary to vitamin a intoxication. The patient was a 52-year-old woman who presented to the hospital with progressive dyspnea. Evaluation demonstrated mild elevation of her liver function tests, ascites, and a right pleural effusion. The patient consumed a variety of vitamins, including vitamin a. Her estimated vitamin a intake was at least 162,300,000 international units (IU) during 18 years. She dramatically escalated her dose the year before admission for a total acute dose of 98,550,000 IU, with a daily intake of 270,000 IU. The recommended daily allowance is 4,000 IU. A transjugular liver biopsy revealed histopathologic changes consistent with vitamin a toxicity: hypertrophy and hyperplasia of hepatic stellate cells, focal pericellular fibrosis, mild perivenular fibrosis, and minimal, predominantly microvesicular steatosis. Despite the absence of cirrhosis, pressure readings demonstrated portal hypertension. During her hospitalization, the patient's symptoms and biochemical profile improved. As the large and generally unregulated united states dietary supplement industry continues to grow, it is increasingly likely that individuals will present with the signs and symptoms of vitamin excess rather than vitamin deficiency. physicians need to remain alert to the varied presentations and toxic manifestations of excessive vitamin use.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
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